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VERY EARLY DIAGNOSIS AND MANAGEMENT OF CONGENITAL ERYTHROPOIETIC PORPHYRIA AT BIRTH
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  • Marie-Pier Desjardins,
  • Lamia Naccache,
  • Audrey Hébert,
  • Isabelle Auger,
  • Pierre Teira,
  • Marie-Claude Pelland-Marcotte
Marie-Pier Desjardins
CHU de Québec-Université Laval

Corresponding Author:[email protected]

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Lamia Naccache
Centre hospitalier universitaire de Québec-Université Laval
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Audrey Hébert
CHU de Québec-Université Laval
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Isabelle Auger
CHU de Québec-Université Laval
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Pierre Teira
Centre Hospitalier Universitaire Sainte-Justine
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Marie-Claude Pelland-Marcotte
Centre hospitalier universitaire de Québec-Université Laval
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Abstract

Congenital erythropoietic porphyria (CEP) is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS) leading to an accumulation of non-physiological porphyrins. The exposure of accumulated porphyrins to sunlight causes severe photosensitivity, chronic intravascular hemolysis and, eventually, irreversible mutilating deformities. Several supportive therapies such as strict sun avoidance, physical sunblocks, red blood cells transfusion, hydroxyurea and splenectomy are commonly used in the management of CEP. Currently, the only available curative treatment of CEP is HSCT. We present a child with a very early diagnosis of CEP, who became the youngest successful HSCT for CEP.